Varaico: Literature-Extracted Genetic Variants

ASH1L

345 papers

RefSeq Summary

This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small ...

Pfam Domains

AWSaa 2103–2141UCSCAWS domain

SETaa 2156–2261UCSCSET domain

Bromodomainaa 2451–2538UCSCBromodomain

PHD_5aa 2579–2630UCSCPhD finger domain

BAHaa 2661–2798UCSCBAH domain

Gene Aliases

HGNC Name

ASH1 like histone lysine methyltransferase

HGNC Alias Symbols

huASH1; ASH1; ASH1L1; KMT2H

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018489.3

p.Y1046delFs

c.3136delA

Surrounding Variants

1 paper

NM_018489.3

p.G1048A

c.3143G>C

1 paper

NM_018489.3

p.G1043R

c.3127G>C

1 paper

NM_018489.3

p.G1043R

c.3127G>A

1 paper

NM_018489.3

p.V1058I

c.3172G>A

1 paper

NM_018489.3

p.N1060S

c.3179A>G

1 paper

NM_018489.3

p.G1065C

c.3193G>T

1 paper

NM_018489.3

p.S1066I

c.3197G>T

1 paper

NM_018489.3

p.S1023insFs

c.3067dupT

2 papers

NM_018489.3

p.V1014fs

c.3040_3041fs

1 paper

NM_018489.3

p.L1002_K1013del12

c.3004_3038del36

5 papers

NM_018489.3

p.K1011delFs

c.3033delT

1 paper

NM_018489.3

p.G1082V

c.3245G>T